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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Human mutation - 1 Feb 2007

Borck Guntram, Zarhrate Mohamed, Bonnefont Jean-Paul, Munnich Arnold, Cormier-Daire Valérie, Colleaux Laurence

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Heterozygous mutations in the NIPBL gene have been detected in approximately 45% of affected individuals. Recently, a second CdLS gene, mapping to the X chromosome, has been identified: SMC1L1 (structural maintenance of chromosomes...

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Source

Identifiers

PMID: 17221863
DOI: 10.1002/humu.9478

Genes

NIPBL

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.PMID 17221863Read ↗

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Semantic proximity Read ↗

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[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].Semantic proximity Read ↗

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.Semantic proximity Read ↗

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.Semantic proximity Read ↗

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.Semantic proximity Read ↗

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